EFEMP1 and Marfan syndrome: Whereas loss-of-function mutations or premature stop codons in EFEMP1 (the gene that encodes for F3) have been associated with the development of connective tissue diseases resembling Marfan syndrome (8–10), increased copy number/expression of EFEMP1 correlates with increased risk for age-related macular degeneration (AMD) (11, 12).